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rs9913583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs9913583(A;A)
Make rs9913583(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position1762036
GeneSERPINF1
is asnp
is mentioned by
dbSNPrs9913583
dbSNP (classic)rs9913583
ClinGenrs9913583
ebirs9913583
HLIrs9913583
Exacrs9913583
Gnomadrs9913583
Varsomers9913583
LitVarrs9913583
Maprs9913583
PheGenIrs9913583
Biobankrs9913583
1000 genomesrs9913583
hgdprs9913583
ensemblrs9913583
geneviewrs9913583
scholarrs9913583
googlers9913583
pharmgkbrs9913583
gwascentralrs9913583
openSNPrs9913583
23andMers9913583
SNPshotrs9913583
SNPdbers9913583
MSV3drs9913583
GWAS Ctlgrs9913583
GMAF0.1001
Max Magnitude0
? (A;A) (A;C) (C;C) 28


[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population


[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration


[PMID 17658465] Promoter polymorphisms of the pigment epithelium-derived factor gene are associated with diabetic retinopathy.


ClinVar
Risk rs9913583(A;A)
Alt rs9913583(A;A)
Reference Rs9913583(C;C)
Significance Probable-non-pathogenic
Disease Osteogenesis Imperfecta
Variation info
Gene SERPINF1
CLNDBN Osteogenesis Imperfecta, Recessive
Reversed 0
HGVS NC_000017.10:g.1665330C>A
CLNSRC
CLNACC RCV000365793.1,